ClinVar Miner

Submissions for variant NM_005911.6(MAT2A):c.813T>C (p.Tyr271=)

gnomAD frequency: 0.00103  dbSNP: rs149459768
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535085 SCV000658898 benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000606896 SCV000714991 benign not specified 2017-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002420538 SCV002680289 likely benign Cardiovascular phenotype 2019-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606896 SCV004028977 benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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